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Novel polynucleotides encoding a human fkrp protein

A polynucleotide and encoding technology, applied in the direction of animal/human peptides, peptide/protein components, medical preparations containing active ingredients, etc., can solve problems such as large impact and muscular dystrophy

Pending Publication Date: 2020-03-31
GENETHON +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

LGMD2I is a recessive autosomal muscular dystrophy that, although heterogeneously affects the muscles of the shoulder and pelvic girdle, is more strongly affected

Method used

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  • Novel polynucleotides encoding a human fkrp protein
  • Novel polynucleotides encoding a human fkrp protein
  • Novel polynucleotides encoding a human fkrp protein

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Embodiment Construction

[0041] The present invention is based on the following discovery: inhibiting the complementary frameshift initiation codon contained in the coding region of the Fukutin-related protein (FKRP) can increase the expression of FKRP.

[0042] Therefore, in one aspect, the present invention provides a synthetic polynucleotide encoding human FKRP, wherein the polynucleotide comprises at least one mutation that avoids the complementary transcript generated from the frameshift start codon.

[0043] According to the present invention, the synthetic polynucleotide comprises or consists of a nucleic acid sequence encoding functional human FKRP.

[0044] In one embodiment, the polynucleotide encoding human FKRP, also known as the "open reading frame" ORF, is cDNA. However, for example, single-stranded or double-stranded DNA or RNA can be used.

[0045] In the framework of the present invention, the human FKRP protein is composed of the amino acid sequence shown in SEQ ID NO: 1 (the protein corresp...

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Abstract

The present invention concerns synthetic polynucleotides encoding a human fukutin- related protein (FKRP) wherein said polynucleotides contain at least a mutation avoiding supplementary transcript(s)generated from frameshift start codon(s). Said polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in Alpha-dystroglycan (Alpha-DG) glycosylation, such as LGMD2I.

Description

[0001] The present invention provides an effective gene therapy product for the treatment of diseases caused by α-dystroglycan (α-DG) glycosylation defects. The present invention relates to polynucleotides that encode human fukutin-related protein (FKRP) and contain mutations that avoid complementary transcripts generated from frameshift start codons. A higher level of FKRP expression is observed with the polynucleotide, which provides a valuable therapeutic tool for the treatment of various diseases related to FKRP deficiency, such as type 2I limb girdle muscular dystrophy (LGMD2I). [0002] Background of the invention [0003] "Dystroglycanopathies" recombines different genetic disorders that lead to secondary abnormal glycosylation of α-dystroglycan (αDG). This protein is mainly found in skeletal muscle, heart, eye and brain tissues. It is a highly glycosylated membrane protein. Its glycosylation process increases its weight from 70kDa to 156kDa. It is part of the dystrophin-gl...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): A61K38/00A61K48/00C07K14/47
CPCA61K38/00C07K14/4707A61P21/00A61K48/005A01K2227/105C12N2750/14143C12N15/86
Inventor I·理查德E·吉凯尔-祖伊达
Owner GENETHON
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